Bernice E Morrow

Bernice E Morrow

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Bernice E Morrow

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Copy number variations in individuals with conotruncal heart defects reveal some shared developmental pathways irrespective of 22q11.2 deletion status.

Birth Defects Res 2019 Aug 20;111(13):888-905. Epub 2019 Jun 20.

Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.

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http://dx.doi.org/10.1002/bdr2.1534DOI Listing
August 2019

Spatiotemporal Gene Coexpression and Regulation in Mouse Cardiomyocytes of Early Cardiac Morphogenesis.

J Am Heart Assoc 2019 Aug 19;8(15):e012941. Epub 2019 Jul 19.

Department of Genetics Albert Einstein College of Medicine Bronx NY.

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http://dx.doi.org/10.1161/JAHA.119.012941DOI Listing
August 2019

Tbx1 and Foxi3 genetically interact in the pharyngeal pouch endoderm in a mouse model for 22q11.2 deletion syndrome.

PLoS Genet 2019 Aug 14;15(8):e1008301. Epub 2019 Aug 14.

Department of Genetics, Albert Einstein College of Medicine, Bronx, New York, United States of America.

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http://dx.doi.org/10.1371/journal.pgen.1008301DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6709926PMC
August 2019

Gene-based genome-wide association studies and meta-analyses of conotruncal heart defects.

PLoS One 2019 17;14(7):e0219926. Epub 2019 Jul 17.

Department of Epidemiology, Human Genetics and Environmental Sciences and Human Genetics Center, UTHealth School of Public Health, Houston, Texas, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0219926PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6636758PMC
July 2019

The Prevalence of Ultrarapid Metabolizers of Codeine in a Diverse Urban Population.

Otolaryngol Head Neck Surg 2019 Mar 16;160(3):420-425. Epub 2018 Oct 16.

2 Albert Einstein College of Medicine, Bronx, NY, USA.

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http://journals.sagepub.com/doi/10.1177/0194599818804780
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http://dx.doi.org/10.1177/0194599818804780DOI Listing
March 2019

NOTCH maintains developmental cardiac gene network through WNT5A.

J Mol Cell Cardiol 2018 12 19;125:98-105. Epub 2018 Oct 19.

Departments of Genetics, Pediatrics, and Medicine (Cardiology), Albert Einstein College of Medicine, Institute for Aging Research, Wilf Cardiovascular Research Institute, New York 10461, USA; Department of Cardiology of First Affiliated Hospital, State Key Laboratory of Reproductive Medicine, Nanjing Medical University, Nanjing, Jiangsu, China. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00222828183076
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http://dx.doi.org/10.1016/j.yjmcc.2018.10.014DOI Listing
December 2018

Molecular genetics of 22q11.2 deletion syndrome.

Am J Med Genet A 2018 10;176(10):2070-2081

Institute of Child Health, University College London, London, UK.

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http://doi.wiley.com/10.1002/ajmg.a.40504
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http://dx.doi.org/10.1002/ajmg.a.40504DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6214629PMC
October 2018

Integrated rare variant-based risk gene prioritization in disease case-control sequencing studies.

PLoS Genet 2017 12 27;13(12):e1007142. Epub 2017 Dec 27.

Department of Genetics, Albert Einstein College of Medicine, Bronx, New York, United States of America.

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http://dx.doi.org/10.1371/journal.pgen.1007142DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5760082PMC
December 2017

Rare Genome-Wide Copy Number Variation and Expression of Schizophrenia in 22q11.2 Deletion Syndrome.

Am J Psychiatry 2017 11 28;174(11):1054-1063. Epub 2017 Jul 28.

From the Dalglish Family 22q Clinic, Department of Psychiatry, University Health Network, Toronto; the Department of Psychiatry and Toronto General Research Institute, University Health Network, Toronto; the Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto; the Department of Psychiatry, University of Toronto, Toronto; the Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto; the Centre for Applied Genomics and Program in Genetics and Genome Biology, the Hospital for Sick Children, Toronto; the Medical Genetics Residency Training Program, University of Toronto, Toronto; the Department of Psychiatry and Psychology, Maastricht University, Maastricht, the Netherlands; the Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia; the Departments of Pediatrics and of Psychiatry, Perelman School of Medicine, University of Pennsylvania, Philadelphia; the Centre for Human Genetics, University of Leuven (KU Leuven), Leuven, Belgium; the Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, Wales; the Department of Psychiatry, Royal College of Surgeons in Ireland, Dublin; the Department of Child and Adolescent Psychiatry, King's College London; the Department of Psychiatry, Tel Aviv University, Tel Aviv, Israel; the Department of Psychiatry and Biobehavioral Sciences, Semel Institute for Neuroscience and Human Behavior, UCLA, Los Angeles; Office Médico-Pédagogique Research Unit, Department of Psychiatry, University of Geneva School of Medicine, Geneva; the Department of Psychiatry and Behavioral Sciences, Upstate Medical University, State University of New York, Syracuse; Département de Génétique Médicale, Centre Hospitalier Universitaire de Marseille - Hôpital de la Timone, Marseilles, France; the Department of Pediatrics, Duke University, Durham, N.C.; the Department of Psychology, University of Newcastle, Newcastle, Australia; the Department of Psychiatry, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands; the Department of Human Genetics, Emory University, Atlanta; Centro de Genética y Genómica, Facultad de Medicina, Clínica Alemana Universidad del Desarrollo, Santiago, Chile; the Department of Psychiatry and Behavioral Sciences, UC Davis, Sacramento, Calif.; Molecular Genetics and McLaughlin Centre, and Laboratory Medicine and Pathobiology, University of Toronto, Toronto; the Department of Genetics, Albert Einstein College of Medicine, Bronx, N.Y.; and Genome Diagnostics, Department of Paediatric Laboratory Medicine, the Hospital for Sick Children, Toronto.

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http://dx.doi.org/10.1176/appi.ajp.2017.16121417DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5665703PMC
November 2017

and act in concert to modulate the fate of neurosensory cells of the mouse otic vesicle.

Biol Open 2017 Oct 15;6(10):1472-1482. Epub 2017 Oct 15.

Department of Genetics, Albert Einstein College of Medicine, 1301 Morris Park Avenue, Bronx, NY 10461, USA

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http://bio.biologists.org/lookup/doi/10.1242/bio.027359
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http://dx.doi.org/10.1242/bio.027359DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5665468PMC
October 2017

Genome-Wide Association Study to Find Modifiers for Tetralogy of Fallot in the 22q11.2 Deletion Syndrome Identifies Variants in the Locus on 5q14.3.

Circ Cardiovasc Genet 2017 Oct;10(5)

From the Department of Genetics (T.G., J.H.C., H.N., C.L.C., T.W., B.E.M.) and Department of Epidemiology and Population Health (T.W.), Albert Einstein College of Medicine, Bronx, NY; Center for Human Genetics, Facultad de Medicina Clinica Alemana Universidad del Desarrollo, Santiago, Chile (G.M.R.); Division of Human Genetics (D.M.M.M., E.E.M., E.Z., B.S.E.), Division of Cardiology (E.G.), and Department of Pediatrics (E.G.), Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania, Philadelphia; Department of Genetics, Wroclaw Medical University, Poland (A.B.); Clinical Genetics Research Program, Center for Addiction and Mental Health and Department of Psychiatry, University of Toronto (A.S.B., E.W.C.C.); Dalglish Family 22q Clinic, Department of Psychiatry and Toronto General Research Institute, University Health Network, Canada (A.S.B.); Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, Canada (A.S.B.); Center for Human Genetics, University of Leuven (KU Leuven), Belgium (A.S., J.V., K.D.); The Child Psychiatry Division, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel (D.G.); Sackler Faculty of Medicine and Sagol School of Neuroscience, Tel Aviv University, Israel (D.G., M.C., E.M.); Felsenstein Medical Research Center, Sackler Faculty of Medicine, Tel Aviv University, Petah Tikva, Israel (M.C., E.M.); Developmental Imaging and Psychopathology Lab, University of Geneva School of Medicine, Switzerland (M.S., S.E.); Department of Genetic Medicine, UNIGE and iGE3 Institute of Genetics and Genomics of Geneva, University of Geneva Medical Center, Switzerland (S.E.A.); Marcus Autism Center, Children's Healthcare of Atlanta, GA (K.C.); Division of Pediatric Cardiovascular Surgery, Children's Hospital of Wisconsin, Milwaukee (A.T.-M., M.E.M.); Department of Surgery, Medical College of Wisconsin, Milwaukee (A.T.-M., M.E.M.); Department of Medical Genetics, Bambino Gesù Hospital, Rome, Italy (M.C.D., B.D.); Department of Pediatrics, La Sapienza University of Rome, Italy (B.M.); Department of Medical Genetics, Aix Marseille University, APHM, GMGF, Timone Hospital, France (N.P., T.B.); Department of Psychiatry and Biobehavioral Sciences, Semel Institute for Neuroscience and Human Behavior, University of California at Los Angeles (L.K.-W., C.E.B.); Department of Genetics, Polish Mother's Memorial Hospital, Research Institute, Łódź, Poland (M.P., W.H.); Department of Cardiology and Division of Genetics, Boston Children's Hospital, MA (A.E.R.); M.I.N.D. Institute and Department of Psychiatry and Behavioral Sciences (F.T.) and M.I.N.D. Institute and Department of Biochemistry and Molecular Medicine (T.J.S.), University of California, Davis; Department of Psychiatry and Psychology, University of Maastricht, The Netherlands (E.D.A.V.D., T.A.v.A.); Department of Psychiatry and Behavioral Sciences, and Program in Neuroscience, SUNY Upstate Medical University, Syracuse, NY (T.A.v.A., W.R.K.); Department of Human Genetics, Emory University School of Medicine, Atlanta, GA (H.R.J., D.J.C.); Department of Biostatistics and Bioinformatics, Emory University Rollins School of Public Health, Atlanta, GA (H.R.J.); and Human Genetics Center and Department of Epidemiology, Human Genetics and Environmental Sciences, UTHealth School of Public Health, Houston, TX (A.J.A., L.E.M.).

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http://dx.doi.org/10.1161/CIRCGENETICS.116.001690DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5647121PMC
October 2017

Genetic Drivers of Kidney Defects in the DiGeorge Syndrome.

N Engl J Med 2017 02 25;376(8):742-754. Epub 2017 Jan 25.

From the Division of Nephrology (E.L.-R., M.V., V.P.C., Z.Y., A.M., J.M., N.J.S., D.A.F., R.D., M.W., G.S.M., M.B., J.M.B., K.K., A.G.G., S.S.-C.) and the Division of Nephrology in Medicine and Zuckerman Mind Brain Behavior Institute (B.H.), the Departments of Systems Biology (D.S.P., B.H.), Biochemistry and Molecular Biophysics (B.H.), and Pathology (V.D.), and the Howard Hughes Medical Institute (D.S.P., B.H.), Columbia University, and the Department of Genetics and Development, Columbia University Medical Center (Q.L., V.E.P.), New York, and the Department of Genetics, Albert Einstein College of Medicine, Bronx (S.E.R., B.E.M.) - all in New York; the Center for Human Disease Modeling, Duke University, Durham, NC (Y.P.L., B.R.A., N. Katsanis); the Departments of Internal Medicine-Nephrology (E.A.O.) and Pediatrics-Nephrology (M.G.S., C.E.G., V.V.-W.), University of Michigan School of Medicine, Ann Arbor; the Department of Anatomy, Histology, and Embryology, School of Medicine, University of Split (K.V., M.S.-B.), and the Departments of Pediatrics (A.A., M. Saraga) and Pathology (N. Kunac), University Hospital of Split, Split, Croatia; the Department of Pediatric Nephrology, VU University Medical Center, Amsterdam (R.W., J.A.E.W.); the Department of Medicine, Boston Children's Hospital (A.V., F.H.), and Harvard Medical School, Boston (A.V., F.H., I.A.D.), and the Nephrology Division, Massachusetts General Hospital, Charlestown (I.A.D.) - all in Massachusetts; the Division of Nephrology, Dialysis, Transplantation, and Laboratory on Pathophysiology of Uremia, Istituto G. Gaslini, Genoa (M.B., A.C., G.M.G.), the Department of Clinical and Experimental Medicine, University of Parma (M.B., M. Maiorana, L.A.), and the Pediatric Surgery Unit, University Hospital of Parma (E.C.), Parma, the Section of Nephrology, Department of Emergency and Organ Transplantation, University of Bari, Bari (L.G.), the Department of Medical Sciences, University of Milano, and Institute of Biomedical Technologies, Italian National Institute of Research ITB-CNR, Milan (D.C.), and Dipartimento Ostetrico-Ginecologico e Seconda Divisione di Nefrologia ASST Spedali Civili e Presidio di Montichiari (C.I.) and Cattedra di Nefrologia, Università di Brescia, Seconda Divisione di Nefrologia Azienda Ospedaliera Spedali Civili di Brescia Presidio di Montichiari (F.S.), Brescia - all in Italy; the Department of General and Transplant Surgery, University Hospital of Heidelberg, Germany (V.J.L.); the Department of Pediatric Nephrology, Centre de Référence des Maladies Rénales Héréditaires de l'Enfant et de l'Adulte (R.S., L.H., C.J.), INSERM UMR 1163, Laboratory of Hereditary Kidney Diseases (R.S.), Necker-Enfants Malades Hospital, Paris Descartes-Sorbonne Paris Cite University, Imagine Institute (R.S.), Sorbonne Universités, UPMC 06, Plateforme Post-génomique de la Pitié-Salpêtrière, UMS 2 Omique, Inserm US029 (W.C.), Paris, and the Department of Genetics, Centre Hospitalier Universitaire de Reims, Unité de Formation et de Recherche de Médecine, Reims (D.G.) - both in France; the Department of Neurology, University of Washington School of Medicine, and Northwest VA Parkinson's Disease Research, Education and Clinical Centers, Seattle (A. Samii); the Division of Human Genetics, Department of Pediatrics, 22q and You Center, Children's Hospital of Philadelphia and Perelman School of Medicine at the University of Pennsylvania (D.M.M.-M., T.B.C., E.H.Z., S.L.F.), Division of Nephrology, Children's Hospital of Philadelphia (S.L.F.), and the Department of Genetics, University of Pennsylvania (H.H.), Philadelphia; the Dialysis Unit, Jagiellonian University Medical College (D.D.), and the Department of Pediatric Nephrology, Jagiellonian University Medical College (M. Miklaszewska), Krakow, the Department of Pediatrics, Immunology and Nephrology, Polish Mother's Memorial Hospital Research Institute, Lodz (M.T.), the Department of Pediatric Nephrology Medical University of Lublin, Lublin (P.S.), the Department of Pediatrics, School of Medicine with the Division of Dentistry in Zabrze, Medical University of Silesia, Katowice (M. Szczepanska), the Department of Pediatrics and Nephrology, Medical University of Warsaw, Warsaw (M.M.-W., G.K., A. Szmigielska), and Krysiewicza Children's Hospital (M.Z.) and the Department of Medical Genetics, Poznan University of Medical Sciences, and Center for Medical Genetics GENESIS (A.L.-B., A.M.-K.), Poznań - all in Poland; the Department of Clinical Genetics (J.M.D., D.B.), National Children's Research Centre (J.M.D., P.P.), and University College Dublin School of Medicine (D.B.), Our Lady's Children's Hospital Crumlin, and the National Children's Hospital Tallaght (P.P.), Dublin, Ireland; the Division of Pediatric Nephrology, Children's Mercy Hospital, Kansas City, MO (B.A.W.); University Children's Hospital, Medical Faculty of Skopje, Skopje, Macedonia (Z.G., V.T.); Faculty of Medicine, Palacky University, Olomouc, Czech Republic (H.F.); the Division of Pediatric Nephrology, University of New Mexico Children's Hospital, Albuquerque (C.S.W.); Ben May Department for Cancer Research, University of Chicago, Chicago (A.I.); and the Department of Genetics, Howard Hughes Medical Institute, and Yale Center for Mendelian Genomics, Yale University, New Haven, CT (R.P.L.).

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http://dx.doi.org/10.1056/NEJMoa1609009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5559731PMC
February 2017

A Pedigree-Based Map of Recombination in the Domestic Dog Genome.

G3 (Bethesda) 2016 Nov 8;6(11):3517-3524. Epub 2016 Nov 8.

Department of Genetics, Albert Einstein College of Medicine, Bronx, New York 10461

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http://dx.doi.org/10.1534/g3.116.034678DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5100850PMC
November 2016

Histone Modifier Genes Alter Conotruncal Heart Phenotypes in 22q11.2 Deletion Syndrome.

Am J Hum Genet 2015 Dec 19;97(6):869-77. Epub 2015 Nov 19.

Department of Genetics, Albert Einstein College of Medicine, Yeshiva University, Bronx, NY 10461, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2015.10.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4678435PMC
December 2015

22q11.2 deletion syndrome.

Nat Rev Dis Primers 2015 11 19;1:15071. Epub 2015 Nov 19.

The Dalglish Family Hearts and Minds Clinic for 22q11.2 Deletion Syndrome, Toronto General Hospital, University Health Network, and Clinical Genetics Research Program, Centre for Addiction and Mental Health, University of Toronto, Toronto, Ontario, Canada.

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http://www.nature.com/articles/nrdp201571
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http://dx.doi.org/10.1038/nrdp.2015.71DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4900471PMC
November 2015

Genetic analysis of nonalcoholic fatty liver disease within a Caribbean-Hispanic population.

Mol Genet Genomic Med 2015 Nov 11;3(6):558-69. Epub 2015 Aug 11.

Department of GeneticsAlbert Einstein College of Medicine1301 Morris Park Ave.BronxNew York10461; Department of Anatomy and Structural BiologyAlbert Einstein College of MedicineBronxNew York10461.

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http://dx.doi.org/10.1002/mgg3.168DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4694126PMC
November 2015

Mammalian TBX1 preferentially binds and regulates downstream targets via a tandem T-site repeat.

PLoS One 2014 5;9(5):e95151. Epub 2014 May 5.

Department of Genetics, Albert Einstein College of Medicine, Bronx, New York, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0095151PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4010391PMC
June 2015

Mouse and human CRKL is dosage sensitive for cardiac outflow tract formation.

Am J Hum Genet 2015 Feb;96(2):235-44

Department of Genetics, Albert Einstein College of Medicine, Yeshiva University, Bronx, NY 10461, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2014.12.025DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4320261PMC
February 2015

Identification of critical regions and candidate genes for cardiovascular malformations and cardiomyopathy associated with deletions of chromosome 1p36.

PLoS One 2014 15;9(1):e85600. Epub 2014 Jan 15.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America ; Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, Texas, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0085600PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3893250PMC
December 2014

Association between autism spectrum disorder in individuals with velocardiofacial (22q11.2 deletion) syndrome and PRODH and COMT genotypes.

Psychiatr Genet 2014 Dec;24(6):269-72

Departments of aNeuroscience and Physiology bPsychiatry and Behavioral Sciences, SUNY Upstate Medical University, Syracuse cThe Virtual Center for Velo-Cardio-Facial Syndrome, Manlius dDepartment of Genetics, Albert Einstein College of Medicine, Bronx, New York, USA.

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http://dx.doi.org/10.1097/YPG.0000000000000062DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4284058PMC
December 2014

Tbx1 is required autonomously for cell survival and fate in the pharyngeal core mesoderm to form the muscles of mastication.

Hum Mol Genet 2014 Aug 4;23(16):4215-31. Epub 2014 Apr 4.

Department of Genetics, Albert Einstein College of Medicine, 1301 Morris Park Avenue, Bronx, NY 10461, USA,

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http://dx.doi.org/10.1093/hmg/ddu140DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4103673PMC
August 2014

Spectrum of elastin sequence variants and cardiovascular phenotypes in 49 patients with Williams-Beuren syndrome.

Am J Med Genet A 2013 Mar 7;161A(3):527-33. Epub 2013 Feb 7.

Department of Genetics, Albert Einstein College of Medicine, Bronx, New York 10461, USA.

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http://dx.doi.org/10.1002/ajmg.a.35784DOI Listing
March 2013

Identification of putative retinoic acid target genes downstream of mesenchymal Tbx1 during inner ear development.

Dev Dyn 2012 Mar 1;241(3):563-73. Epub 2012 Feb 1.

Department of Genetics, Albert Einstein College of Medicine, Bronx, New York 10461, USA.

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http://dx.doi.org/10.1002/dvdy.23731DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3282991PMC
March 2012

Interstitial duplication of 22q13.2 in a girl with short stature, impaired speech and language, and dysmorphism.

J Pediatr Genet 2012 Mar;1(1):47-53

Department of Genetics, Division of Translational Genetics, Albert Einstein College of Medicine, Bronx, NY, USA; Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, NY, USA.

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http://dx.doi.org/10.3233/PGE-2012-009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5020919PMC
March 2012

Dual embryonic origin of the mammalian otic vesicle forming the inner ear.

Development 2011 Dec;138(24):5403-14

Department of Genetics, Albert Einstein College of Medicine, 1301 Morris Park Avenue, Bronx, NY 10461, USA.

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http://dx.doi.org/10.1242/dev.069849DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3222214PMC
December 2011

Cleft palate, retrognathia and congenital heart disease in velo-cardio-facial syndrome: a phenotype correlation study.

Int J Pediatr Otorhinolaryngol 2011 Sep 18;75(9):1167-72. Epub 2011 Jul 18.

Velo-Cardio-Facial Syndrome International Center, Department of Otolaryngology and Communication Sciences, SUNY Upstate Medical University, 725 Irving Avenue, Suite 406, Syracuse, NY 13210, United States.

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http://linkinghub.elsevier.com/retrieve/pii/S016558761100290
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http://dx.doi.org/10.1016/j.ijporl.2011.06.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3162093PMC
September 2011

A Tbx1-Six1/Eya1-Fgf8 genetic pathway controls mammalian cardiovascular and craniofacial morphogenesis.

J Clin Invest 2011 Apr;121(4):1585-95

Department of Urology, Children's Hospital Boston, and Department of Surgery and Pathology, Harvard Medical School, Boston, Massachusetts 02115, USA.

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http://www.jci.org/articles/view/44630
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http://dx.doi.org/10.1172/JCI44630DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3069777PMC
April 2011

Mesodermal Tbx1 is required for patterning the proximal mandible in mice.

Dev Biol 2010 Aug 23;344(2):669-81. Epub 2010 May 23.

Department of Molecular Genetics, Albert Einstein College of Medicine, Bronx, NY 10461, USA.

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http://dx.doi.org/10.1016/j.ydbio.2010.05.496DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2917794PMC
August 2010

Mutational analysis of HOXA2 and SIX2 in a Bronx population with isolated microtia.

Int J Pediatr Otorhinolaryngol 2010 Aug 9;74(8):878-82. Epub 2010 Jun 9.

Division of Translational Genetics, Department of Genetics, Albert Einstein College of Medicine, 1301 Morris Park Avenue, Price Center 402, Bronx, NY 10461, USA.

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http://dx.doi.org/10.1016/j.ijporl.2010.05.004DOI Listing
August 2010

GJB2 mutation spectrum in 209 hearing impaired individuals of predominantly Caribbean Hispanic and African descent.

Int J Pediatr Otorhinolaryngol 2010 Jun 9;74(6):611-8. Epub 2010 Apr 9.

Department of Genetics, Albert Einstein College of Medicine, 1301 Morris Park Avenue, Bronx, NY 10461, United States.

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http://dx.doi.org/10.1016/j.ijporl.2010.03.004DOI Listing
June 2010

Canonical Wnt signaling modulates Tbx1, Eya1, and Six1 expression, restricting neurogenesis in the otic vesicle.

Dev Dyn 2010 Jun;239(6):1708-22

Department of Genetics, Albert Einstein College of Medicine, Bronx, New York, USA.

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http://doi.wiley.com/10.1002/dvdy.22308
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http://dx.doi.org/10.1002/dvdy.22308DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2987613PMC
June 2010

Tbx1 and Brn4 regulate retinoic acid metabolic genes during cochlear morphogenesis.

BMC Dev Biol 2009 May 29;9:31. Epub 2009 May 29.

Department of Genetics, Albert Einstein College of Medicine, 1300 Morris Park Avenue, Bronx, New York 10461, USA.

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http://dx.doi.org/10.1186/1471-213X-9-31DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2700094PMC
May 2009

Genetic evaluation of American minority pediatric cochlear implant recipients.

Int J Pediatr Otorhinolaryngol 2009 Feb 9;73(2):195-203. Epub 2008 Dec 9.

Division of Pediatric Otorhinolaryngology-Head and Neck Surgery, Children's Hospital at Montefiore, Bronx, NY 10467, USA.

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http://dx.doi.org/10.1016/j.ijporl.2008.10.002DOI Listing
February 2009

Genetic modifiers of the physical malformations in velo-cardio-facial syndrome/DiGeorge syndrome.

Dev Disabil Res Rev 2008 ;14(1):19-25

Department of Molecular Genetics, Albert Einstein College of Medicine, Bronx, NY 10461, USA.

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http://dx.doi.org/10.1002/ddrr.4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2818567PMC
November 2008

Identification of downstream genetic pathways of Tbx1 in the second heart field.

Dev Biol 2008 Apr 13;316(2):524-37. Epub 2008 Feb 13.

Department of Molecular Genetics, Albert Einstein College of Medicine, 1300 Morris Park Ave., Bronx, NY 10461, USA.

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http://dx.doi.org/10.1016/j.ydbio.2008.01.037DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2494702PMC
April 2008

Cooperative function of Tbx1 and Brn4 in the periotic mesenchyme is necessary for cochlea formation.

J Assoc Res Otolaryngol 2008 Mar 30;9(1):33-43. Epub 2008 Jan 30.

Department of Molecular Genetics, Albert Einstein College of Medicine, 1300 Morris Park Avenue, Bronx, NY 10461, USA.

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http://dx.doi.org/10.1007/s10162-008-0110-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2536808PMC
March 2008

Hominoid lineage specific amplification of low-copy repeats on 22q11.2 (LCR22s) associated with velo-cardio-facial/digeorge syndrome.

Hum Mol Genet 2007 Nov 3;16(21):2560-71. Epub 2007 Aug 3.

Department of Molecular Genetics, Albert Einstein College of Medicine, 1300 Morris Park Avenue, Bronx, NY 10461, USA. mbabcock@aecom

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http://dx.doi.org/10.1093/hmg/ddm197DOI Listing
November 2007

A novel, single nucleotide polymorphism-based assay to detect 22q11 deletions.

Genet Test 2007 ;11(1):91-100

Harvard Medical School-Partners Healthcare Center for Genetics and Genomics, Cambridge, MA 02139, USA.

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http://dx.doi.org/10.1089/gte.2006.0507DOI Listing
May 2007

AT-rich repeats associated with chromosome 22q11.2 rearrangement disorders shape human genome architecture on Yq12.

Genome Res 2007 Apr 6;17(4):451-60. Epub 2007 Feb 6.

Department of Molecular Genetics, Albert Einstein College of Medicine, Bronx, NY 10461, USA.

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http://www.genome.org/cgi/doi/10.1101/gr.5651507
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http://dx.doi.org/10.1101/gr.5651507DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1832092PMC
April 2007

Mutations in GJB2, GJB6, and mitochondrial DNA are rare in African American and Caribbean Hispanic individuals with hearing impairment.

Am J Med Genet A 2007 Apr;143A(8):830-8

Department of Molecular Genetics, Albert Einstein College of Medicine, Bronx, New York 10461, USA.

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http://dx.doi.org/10.1002/ajmg.a.31668DOI Listing
April 2007

Behavior of mice with mutations in the conserved region deleted in velocardiofacial/DiGeorge syndrome.

Neurogenetics 2006 Nov 10;7(4):247-57. Epub 2006 Aug 10.

Department of Medicine, University of California, San Diego School of Medicine, La Jolla, CA 92093-0627, USA.

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http://dx.doi.org/10.1007/s10048-006-0054-0DOI Listing
November 2006

Dissection of Tbx1 and Fgf interactions in mouse models of 22q11DS suggests functional redundancy.

Hum Mol Genet 2006 Nov 25;15(21):3219-28. Epub 2006 Sep 25.

Department of Molecular Genetics, Albert Einstein College of Medicine, 1300 Morris Park Avenue, Bronx, NY 10461, USA.

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http://dx.doi.org/10.1093/hmg/ddl399DOI Listing
November 2006

T-genes and limb bud development.

Am J Med Genet A 2006 Jul;140(13):1407-13

Department of Obstetrics and Gynecology and Women's Health, Albert Einstein College of Medicine, 1300 Morris Park Avenue, Bronx, NY 10461, USA.

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http://doi.wiley.com/10.1002/ajmg.a.31250
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http://dx.doi.org/10.1002/ajmg.a.31250DOI Listing
July 2006

Tissue-specific roles of Tbx1 in the development of the outer, middle and inner ear, defective in 22q11DS patients.

Hum Mol Genet 2006 May 6;15(10):1629-39. Epub 2006 Apr 6.

Department of Molecular Genetics, Albert Einstein College of Medicine, 1300 Morris Park Avenue, Bronx, NY 10461, USA.

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http://academic.oup.com/hmg/article/15/10/1629/2355897/Tissu
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http://dx.doi.org/10.1093/hmg/ddl084DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2563157PMC
May 2006

Tbx1 affects asymmetric cardiac morphogenesis by regulating Pitx2 in the secondary heart field.

Development 2006 Apr;133(8):1565-73

Department of Molecular Genetics, Albert Einstein College of Medicine, 1300 Morris Park Avenue, Bronx, NY 10461, USA.

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http://dx.doi.org/10.1242/dev.02309DOI Listing
April 2006

Inactivation of Tbx1 in the pharyngeal endoderm results in 22q11DS malformations.

Development 2006 Mar 1;133(5):977-87. Epub 2006 Feb 1.

Department of Molecular Genetics, Albert Einstein College of Medicine, 1300 Morris Park Avenue, Bronx, NY 10461, USA.

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http://dx.doi.org/10.1242/dev.02264DOI Listing
March 2006

Full spectrum of malformations in velo-cardio-facial syndrome/DiGeorge syndrome mouse models by altering Tbx1 dosage.

Hum Mol Genet 2004 Aug 9;13(15):1577-85. Epub 2004 Jun 9.

Department of Molecular Genetics, Albert Einstein College of Medicine, Bronx, NY 10461, USA.

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http://dx.doi.org/10.1093/hmg/ddh176DOI Listing
August 2004

Suppression of neural fate and control of inner ear morphogenesis by Tbx1.

Development 2004 Apr 17;131(8):1801-12. Epub 2004 Mar 17.

Department of Neuroscience, Albert Einstein College of Medicine, 1300 Morris Park Avenue, Bronx, NY 10461, USA.

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http://dx.doi.org/10.1242/dev.01067DOI Listing
April 2004

Shuffling of genes within low-copy repeats on 22q11 (LCR22) by Alu-mediated recombination events during evolution.

Genome Res 2003 Dec;13(12):2519-32

Department of Molecular Genetics, Albert Einstein College of Medicine, Bronx, New York, New York 10461, USA.

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http://dx.doi.org/10.1101/gr.1549503DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC403794PMC
December 2003

Genomic disorders on 22q11.

Am J Hum Genet 2002 May 29;70(5):1077-88. Epub 2002 Mar 29.

Department of Biological Sciences, University of Alberta, Edmonton, Alberta, Canada.

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http://dx.doi.org/10.1086/340363DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC447586PMC
May 2002